Canonical Allele Identifier: CA2499223262

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1070434
• ClinVar RCV Id: RCV001382571 ; RCV002438888 ; RCV003458226
• dbSNP Id: rs2150945928

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046218dup , CM000678.2:g.2046218dup	GRCh38
NC_000016.9:g.2096219dup , CM000678.1:g.2096219dup	GRCh37
NC_000016.8:g.2036220dup	NCBI36
NG_005895.1:g.1913dup , LRG_487:g.1913dup
NG_008412.1:g.6650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.265dup MANE Select	ENSP00000498421.1:p.Val89GlyfsTer20
ENST00000651583.1:c.220dup	ENSP00000498821.1:p.Val74GlyfsTer20
ENST00000219066.5:c.289dup	ENSP00000219066.1:p.Val97GlyfsTer20
ENST00000561841.1:c.185dup
ENST00000566380.5:c.228dup
ENST00000568513.5:c.173+63dup
NM_002528.5:c.289dup	NP_002519.1:p.Val97GlyfsTer20
XM_011522505.1:c.289dup	XP_011520807.1:p.Val97GlyfsTer20
NM_001318193.1:c.289dup	NP_001305122.1:p.Val97GlyfsTer20
NM_001318194.1:c.24+63dup	NP_001305123.1:n.24+63dup
NM_002528.6:c.289dup	NP_002519.1:p.Val97GlyfsTer20
XM_017023253.1:c.289dup	XP_016878742.1:p.Val97GlyfsTer20
NM_001318193.2:c.265dup	NP_001305122.2:p.Val89GlyfsTer20
NM_002528.7:c.265dup MANE Select	NP_002519.2:p.Val89GlyfsTer20
NM_001318194.2:c.24+63dup	NP_001305123.1:n.24+63dup